Varaico: Literature-Extracted Genetic Variants

Gene:DNAH8
Variant:p.S2108L
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DNAH8

NM_001206927.2:p.S2108L

Associated Papers

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Durmaz A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."